Tag Archive for: emilie heller

White text says 'NEW LAFORA DATABASES' above an image of genetic mutation. It has a purple overlay. Purple text over a white block says 'Canine & Mutation.' There is a photo of a beagle to the left of the text. White and purple circles decorate the edges of the graphic, with the round Chelsea's Hope Lafora Children Research Fund logo in the bottom right-hand corner.

Empowering Lafora Disease Research: Launch of Patient Mutation and Canine Databases

/by

Hear from Emilie Heller about the launch of two databases she worked on:

“Hi everyone! My name is Emilie and I’ve just wrapped up my time at Chelsea’s Hope as the Research Network Development Intern. I’m excited to share about the launch of two Lafora databases.

Patient Mutation Database

Our new Patient Mutation Database is a comprehensive list of all the reported and published mutations leading to Lafora disease. Firstly, this database will assist with identifying disease-causing mutations. Furthermore, the database will improve our ability to predict mild versus classical disease progression to better treat Lafora patients. The mutation database will be freely available to anyone who registers for access. Researchers and clinicians are also invited to report novel mutations to help us develop a more accurate picture of disease-causing mutations in Lafora disease.

Launch of Canine Registry and Database

During my time interning at Chelsea’s Hope, I also compiled a central database with comprehensive data on affected canines. Numerous canine breeds are susceptible to Lafora disease, a rare and fatal progressive epilepsy causing neurodegeneration. By focusing on canine research on Lafora disease, scientists aim to unravel crucial insights into this complex disorder.

Formed by compiling many studies among leading research institutions, the initiative establishes a dedicated database and registry exclusively focused on collecting canine data related to Lafora disease. This database will serve as a repository for invaluable information, encompassing genetic data, phenotypic profiles, and treatment regimens for affected dogs.

Our organization will maintain and regularly update this database of mutations associated with Lafora disease in canines and their associated phenotypes. By cataloging genetic variations observed in affected canines, researchers will be able to identify patterns and correlations that could shed light on the underlying mechanisms of the disease. This comprehensive canine database is poised to facilitate targeted investigations into the genetic basis of Lafora disease, both paving the way towards finding a cure for our canine friends, and accelerating treatment for human patients with Lafora.”

Researchers and veterinarians can request access to the database. Dog owners can add their affected dog to the Lafora Canine Registry.

Disclaimer: Emilie’s post was edited for clarity.

Find the webpages and forms for accessing the databases on the Chelsea’s Hope website. The organization looks forward to empowering Lafora disease research and fostering collaboration. Finally, please email katherine@chelseashope.org with any questions.

Lafora Mutations Database Page Lafora Canine Registry and Database
MEET THE TEAM

Five Interns to Join Chelsea’s Hope

/by

Chelsea’s Hope is delighted to announce we are expanding the team by hiring five interns through March and April. While the organization initially posted three opportunities, there were so many impressive candidates that the Board of Directors approved five internships.

Chelsea’s Hope is expanding its capabilities to meet our goals and strategy by hiring interns to work in these areas:

  1. Science communications – to help families affected by Lafora Disease better understand the latest research, create educational resources, and expand the website’s science sections.
  2. Research network development – to develop a database of current tools and resources for the Lafora scientific community to promote research collaboration.
  3. Caregiver registry – to develop a registry of Lafora caregivers and create the first questionnaire to support families better.

Meet the Team

Text says 'MEET THE TEAM' on top of a photo of Maysoon Hussain, Celine Lozach, Tomás Quintero, Emilie Heller, and Mariah Merriam

Science Communications

Maysoon Hussain recently graduated from Ross University School of Medicine and is applying for her residency in Obstetrics and Gynecology. She became interested in the rare disease space through her mother’s work and her time as a research intern at UT Southwestern. She will start as a Science Communications Intern in March.

Celine Lozach is majoring in Economics and Environmental Science at Baruch College. She has research communication experience as a Yale Conservation Scholar and previously worked at Make-A-Wish. She will start as a Science Communications Intern in March.

Tomás Quintero is a recent graduate from Davidson College with a passion for neuroscience and medical research. He is a Fulbright Scholar in Colombia and is committed to making science accessible and engaging for everyone. He will start as a Science Communications Intern in April.

Research Network Development

Emilie Heller is majoring in Chemistry at the University of Washington in Seattle. She looks forward to working with Lafora Research Labs to enhance collaboration and facilitate open science. She will start as the Research Network Development Intern in March. 

Caregiver Registry

Mariah Merriam is a longtime volunteer and patient advocate with Chelsea’s Hope. She has two siblings with Lafora Disease and is passionate about reaching a cure and any work to improve the lives of those affected. Mariah is a Research Assistant in Dr. Berge Minassian’s Lafora Disease lab at UT Southwestern Medical Center, and she will start medical school at Western University in Oregon this fall. She will start as the Caregiver Registry Intern in March.

Building a Brighter Future

The internship opportunities closely align with the interns’ career aspirations and personal goals. They will work 10 hours a week under the management of Science Director Dr. Kit Donohue.

Chelsea’s Hope welcomes Maysoon, Celine, Tomás, Emilie, and Mariah. Their passion and commitment to our cause gives us hope for a brighter future, especially in the face of recent challenges in securing treatments for our children. Together, we remain steadfast in our mission to improve the lives of those affected by Lafora Disease.

 

Tag Archive for: emilie heller